Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Molecular and clinical heterogeneity of adult GM2 gangliosidosis.

Developmental neuroscience - 1 Jan 1991

Navon R

Abstract excerpt

Adult GM2 gangliosidosis is a rare autosomal recessive disease with widely varying neurological and psychiatric manifestations. It is caused by marked deficiency, but not total absence, of beta-hexosaminidase (Hex) A, due to a single base change in the alpha-subunit gene of Hex, resulting in a substitution of Ser for Gly at position 269 in the alpha-subunit of the enzyme. The same mutation was identified in all...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Aged
Share to Base Sequence
Share to DNA Mutational Analysis

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Gene Frequency

Share to Genotype

Share to Heterozygote

Share to Molecular Sequence Data

Source

Identifiers

PMID: 1840100
DOI: 10.1159/000112200

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Molecular and clinical heterogeneity of adult GM2 gangliosidosis.PMID 1840100Read ↗

Ashkenazi-Jewish and non-Jewish adult GM2 gangliosidosis patients share a common genetic defect.Semantic proximity Read ↗

Late-onset GM2 gangliosidosis and other hexosaminidase mutations among Jews.Semantic proximity Read ↗

Tay-Sachs disease-causing mutations and neutral polymorphisms in the Hex A gene.Semantic proximity Read ↗

Frequency of three Hex A mutant alleles among Jewish and non-Jewish carriers identified in a Tay-Sachs screening program.Semantic proximity Read ↗

Biochemistry and genetics of Tay-Sachs disease.Semantic proximity Read ↗

Late-onset GM2 gangliosidosis: Ashkenazi Jewish family with an exon 5 mutation (Tyr180-->His) in the Hex A alpha-chain gene.Semantic proximity Read ↗

GM2 gangliosidosis in Saudi Arabia: multiple mutations and considerations for future carrier screening.Semantic proximity Read ↗

[Late infantile and juvenile form of GM2-gangliosidosis variant B1].Semantic proximity Read ↗

Spectrum of Genetic Mutations Among Iranian Patients with Gangliosidosis.Semantic proximity Read ↗

Different attenuated phenotypes of GM2 gangliosidosis variant B in Japanese patients with HEXA mutations at codon 499, and five novel mutations responsible for infantile acute form.Semantic proximity Read ↗

[Recent advances in molecular genetics of GM2 gangliosidosis].Semantic proximity Read ↗

The GM2 gangliosidoses databases: allelic variation at the HEXA, HEXB, and GM2A gene loci.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.